Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000218549 | SCV000272893 | uncertain significance | not specified | 2015-05-28 | criteria provided, single submitter | clinical testing | The p.Asp4968Asn variant in USH2A has not been previously reported in individual s with hearing loss, but has been identified in 6/11568 Latino chromosomes by th e Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org). Although this variant has been seen in the general population, its frequency is not high enough to rule out a pathogenic role. Computational prediction tools and conserv ation analysis do not provide strong support for or against an impact to the pro tein. In summary, the clinical significance of the p.Asp4968Asn variant is uncer tain. |
Counsyl | RCV000668291 | SCV000792865 | uncertain significance | Usher syndrome type 2A; Retinitis pigmentosa 39 | 2017-07-21 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001034435 | SCV001197787 | likely benign | not provided | 2024-01-29 | criteria provided, single submitter | clinical testing |